MFS
MCID: MRF001
MIFTS: 73

Marfan Syndrome (MFS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Marfan Syndrome

Aliases & Descriptions for Marfan Syndrome:

Name: Marfan Syndrome 54 12 71 23 50 24 25 56 66 13 52 41 42 14 38 69
Marfan's Syndrome 12 25 29
Mfs 25 56 66
Marfanoid Hypermobility Syndrome 69
Contractural Arachnodactyly 50
Marfan Syndrome Type 1 66
Mfs1 66

Characteristics:

Orphanet epidemiological data:

56
marfan syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

GeneReviews:

23
marfan syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Although intrafamilial clinical variability can be extensive, marfan syndrome shows high clinical penetrance...

Classifications:



External Ids:

OMIM 54 154700
Disease Ontology 12 DOID:14323
ICD10 33 Q87.4 Q87.40
ICD9CM 35 759.82
MeSH 42 D008382
NCIt 47 C34807
Orphanet 56 ORPHA558
UMLS via Orphanet 70 C0024796
MESH via Orphanet 43 D008382
ICD10 via Orphanet 34 Q87.4
MedGen 40 C0024796
UMLS 69 C0024796

Summaries for Marfan Syndrome

MedlinePlus : 41 marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary : Marfan Syndrome, also known as marfan's syndrome, is related to heritable thoracic aortic disease and mass syndrome, and has symptoms including myalgia, cachexia and hemoptysis. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Atenolol and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are cardiovascular system and growth/size/body region

Genetics Home Reference : 25 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases : 50 marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). it is caused by mutations in the fbn1 gene, which provides instructions for making a protein called fibrillin-1. marfan syndrome is inherited in an autosomal dominant pattern. at least 25% of cases are due to a new (de novo) mutation. treatment is based on the signs and symptoms in each person. last updated: 1/26/2017

OMIM : 54 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical... (154700) more...

UniProtKB/Swiss-Prot : 66 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

Wikipedia : 71 Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are... more...

GeneReviews: NBK1335

Related Diseases for Marfan Syndrome

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 202)
id Related Disease Score Top Affiliating Genes
1 heritable thoracic aortic disease 29.5 FBN1 TGFB1
2 mass syndrome 28.6 ACTA2 AGTR1 BMP6 CBS COL1A2 DCN
3 neonatal marfan syndrome 12.1
4 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 11.8
5 loeys-dietz syndrome 2 11.4
6 mycosis fungoides 11.2
7 connective tissue disease 11.1
8 contractural arachnodactyly, congenital 11.0
9 pneumothorax, primary spontaneous 10.9
10 homocystinuria, b6-responsive and nonresponsive types 10.9
11 megalocornea 1, x-linked 10.7
12 mounier-kuhn syndrome 10.7
13 pectus carinatum 10.7
14 aortic aneurysm, familial thoracic 1 10.7
15 marfan lipodystrophy syndrome 10.7
16 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.7
17 ectopia lentis, familial 10.7
18 megalocornea 10.7
19 shprintzen-goldberg syndrome 10.7
20 ectopia lentis, isolated, autosomal recessive 10.7
21 lujan-fryns syndrome 10.7
22 aneurysm 10.5
23 aortic aneurysm 10.3
24 linear focal dermal elastosis 10.3 ELN FBN1
25 infective dermatitis associated with htlv-1 10.3 TGFBR1 TGFBR2
26 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 10.3 DCN FBN1
27 acute sensory ataxic neuropathy 10.3 ELN FBN1
28 acute pure sensory neuropathy 10.3 ELN FBN1
29 dyslexia 6 10.3 FBN1 FBN2
30 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.3 ELN FBN1
31 febrile ulceronecrotic mucha-habermann disease 10.2 FBN1 TGFBR1 TGFBR2
32 adenosquamous breast carcinoma 10.2 FBN1 FBN2 TGFBR2
33 geleophysic dysplasia 2 10.2 COL1A2 FBN1 TGFB1
34 adult-onset distal myopathy due to vcp mutation 10.2 ELN FBN1
35 enamel hypoplasia cataract hydrocephaly 10.2 TGFB1 TGFBR1 TGFBR2
36 inflammatory breast carcinoma 10.2 TGFBR1 TGFBR2
37 sclerocornea 10.2 COL1A2 FBN1 FBN2
38 agraphia 10.2 BMP6 COL1A2 FBN1
39 intellectual developmental disorder with persistence of fetal hemoglobin 10.2 TGFBR1 TGFBR2
40 noonan syndrome 4 10.2 MMP2 TGFB1
41 schwannomatosis 10.1 ELN FBN1 MMP2
42 herpes simplex 10.1 COL1A2 ELN TGFB1
43 neuropathy, hereditary sensory and autonomic, type vi 10.1 ACTA2 FBN1 TGFBR2
44 aortic disease 10.1
45 respiratory syncytial virus infectious disease 10.1 BMP6 TGFB1 TGFBR1
46 hemolytic uremic syndrome, atypical 5 10.1 FBN1 FBN2 LTBP2
47 stevens-johnson syndrome/toxic epidermal necrolysis 10.1 BMP6 DCN TGFB1
48 aneruptive fever 10.1 FBN1 FBN2 LTBP2
49 hereditary night blindness 10.1 BMP6 DCN TGFB1
50 apert syndrome 10.1 BMP6 DCN TGFB1

Comorbidity relations with Marfan Syndrome via Phenotypic Disease Network (PDN):


Left Ventricular Outflow Tract Obstruction

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to Marfan Syndrome

Symptoms & Phenotypes for Marfan Syndrome

Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700

Human phenotypes related to Marfan Syndrome:

56 32 (show top 50) (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 56 32 Occasional (29-5%) HP:0003326
2 cachexia 56 32 Occasional (29-5%) HP:0004326
3 hemoptysis 56 32 Occasional (29-5%) HP:0002105
4 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
5 osteopenia 56 32 Occasional (29-5%) HP:0000938
6 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
7 sleep disturbance 56 32 Frequent (79-30%) HP:0002360
8 scoliosis 56 32 Frequent (79-30%) HP:0002650
9 kyphosis 56 32 Occasional (29-5%) HP:0002808
10 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
11 open bite 56 32 Occasional (29-5%) HP:0010807
12 pectus carinatum 56 32 Very frequent (99-80%) HP:0000768
13 pes planus 56 32 Very frequent (99-80%) HP:0001763
14 visual impairment 56 32 Frequent (79-30%) HP:0000505
15 osteoporosis 56 32 Occasional (29-5%) HP:0000939
16 emphysema 56 32 Occasional (29-5%) HP:0002097
17 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
18 cleft palate 56 32 Occasional (29-5%) HP:0000175
19 micrognathia 56 32 Occasional (29-5%) HP:0000347
20 retrognathia 56 32 Occasional (29-5%) HP:0000278
21 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
22 dolichocephaly 56 32 Occasional (29-5%) HP:0000268
23 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
24 high, narrow palate 56 32 Frequent (79-30%) HP:0002705
25 arterial dissection 56 32 Occasional (29-5%) HP:0005294
26 myopia 56 32 Frequent (79-30%) HP:0000545
27 glaucoma 56 32 Occasional (29-5%) HP:0000501
28 retinal detachment 56 32 Occasional (29-5%) HP:0000541
29 striae distensae 56 32 Very frequent (99-80%) HP:0001065
30 arachnodactyly 56 32 Very frequent (99-80%) HP:0001166
31 disproportionate tall stature 56 32 Very frequent (99-80%) HP:0001519
32 slender build 56 32 Very frequent (99-80%) HP:0001533
33 spontaneous pneumothorax 56 32 Very frequent (99-80%) HP:0002108
34 dilatation of the ascending aorta 56 32 Very frequent (99-80%) HP:0005111
35 chronic fatigue 56 32 Very frequent (99-80%) HP:0012432
36 narrow face 56 32 Frequent (79-30%) HP:0000275
37 dental crowding 56 32 Frequent (79-30%) HP:0000678
38 ectopia lentis 56 32 Frequent (79-30%) HP:0001083
39 lens subluxation 56 32 Frequent (79-30%) HP:0001132
40 joint hypermobility 56 32 Frequent (79-30%) HP:0001382
41 mitral valve prolapse 56 32 Frequent (79-30%) HP:0001634
42 protrusio acetabuli 56 32 Frequent (79-30%) HP:0003179
43 arthralgia/arthritis 56 32 Frequent (79-30%) HP:0005059
44 increased axial globe length 56 32 Frequent (79-30%) HP:0007800
45 lens luxation 56 32 Frequent (79-30%) HP:0012019
46 dural ectasia 56 32 Frequent (79-30%) HP:0100775
47 downslanted palpebral fissures 56 32 Occasional (29-5%) HP:0000494
48 meningocele 56 32 Occasional (29-5%) HP:0002435
49 aneurysm of an abdominal artery 56 32 Occasional (29-5%) HP:0002636
50 limited elbow movement 56 32 Occasional (29-5%) HP:0002996

MGI Mouse Phenotypes related to Marfan Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ACTA2 AGTR1 COL1A2 FBN1 FBN2 LTBP2
2 growth/size/body region MP:0005378 10.06 TGFBR2 AGTR1 BMP6 COL1A2 DCN EGF
3 muscle MP:0005369 9.91 ACTA2 COL1A2 DCN FBN1 FBN2 MMP2
4 respiratory system MP:0005388 9.76 TGFBR1 TGFBR2 DCN FBN1 FBN2 LTBP2
5 skeleton MP:0005390 9.61 BMP6 COL1A2 DCN FBN1 FBN2 MMP2
6 vision/eye MP:0005391 9.23 ACTA2 DCN EGF FBN2 LTBP2 MMP2

Drugs & Therapeutics for Marfan Syndrome

Drugs for Marfan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
2
Verapamil Approved Phase 4 52-53-9 2520
3
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807
4 Adrenergic Agents Phase 4,Phase 3,Phase 2
5 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
6 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 3,Phase 2
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
8 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2
9 Sympatholytics Phase 4,Phase 3,Phase 2
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
11 Vasodilator Agents Phase 4,Phase 3,Phase 2
12 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
13 Antihypertensive Agents Phase 4,Phase 3,Phase 2
14 Autonomic Agents Phase 4,Phase 3,Phase 2
15 calcium channel blockers Phase 4
16
protease inhibitors Phase 4,Phase 3
17 HIV Protease Inhibitors Phase 4,Phase 3
18 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3
19 Calcium, Dietary Phase 4
20
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
21
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
22
Angiotensin II Phase 3,Phase 2 68521-88-0, 11128-99-7 65143 172198
23 Mitogens Phase 3
24 Adrenergic Agonists Phase 3
25 Adrenergic beta-Agonists Phase 3
26 Angiotensin II Type 1 Receptor Blockers Phase 3,Phase 2
27 Angiotensin Receptor Antagonists Phase 3,Phase 2
28 Angiotensinogen Phase 3,Phase 2
29
Propranolol Approved, Investigational Phase 2 525-66-6 4946
30
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
31
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
32 Pharmaceutical Solutions Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 2
34 Anti-Infective Agents Phase 2
35 Antimalarials Phase 2
36 Antiparasitic Agents Phase 2
37 Antiprotozoal Agents Phase 2
38 Anesthetics

Interventional clinical trials:

(show all 31)
id Name Status NCT ID Phase
1 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4
2 Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome Unknown status NCT01145612 Phase 3
3 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3
4 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3
5 Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome Completed NCT00485368 Phase 3
6 Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart Network Completed NCT00429364 Phase 3
7 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3
8 Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS Completed NCT01715207 Phase 3
9 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
10 Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3
11 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
12 A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome Unknown status NCT00651235 Phase 2
13 Losartan Versus Atenolol for the Treatment of Marfan Syndrome Completed NCT00593710 Phase 2
14 The Oxford Marfan Trial Recruiting NCT01949233 Phase 2
15 Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary Emphysema Recruiting NCT01849159 Phase 1, Phase 2
16 Thoracic Aortic Dilatation Syndromes Unknown status NCT02111668
17 Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis Unknown status NCT00006393
18 Clinical Variability in Marfan Syndrome Completed NCT01707563
19 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
20 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
21 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
22 Study of Heritable Connective Tissue Disorders Completed NCT00001641
23 Family Myopia Study Completed NCT00341549
24 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
25 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Recruiting NCT02815072
26 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
27 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
28 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533
29 Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study. Recruiting NCT02018835
30 Efficacy in Daily Use of a Novel Skin Care Product for the Treatment of Photoaged Skin Not yet recruiting NCT03144193
31 Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart Disease Withdrawn NCT01300221

Search NIH Clinical Center for Marfan Syndrome

Cochrane evidence based reviews: marfan syndrome

Genetic Tests for Marfan Syndrome

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome 29 24 FBN1

Anatomical Context for Marfan Syndrome

MalaCards organs/tissues related to Marfan Syndrome:

39
Heart, Bone, Eye, Lung, Skin, Testes, Spinal Cord

Publications for Marfan Syndrome

Articles related to Marfan Syndrome:

(show top 50) (show all 908)
id Title Authors Year
1
High-Resolution Morphological Approach to Analyse Elastic Laminae Injuries of the Ascending Aorta in a Murine Model of Marfan Syndrome. ( 28473723 )
2017
2
Aortic Arch in Marfan Syndrome Repaired Using the XL-stent. ( 28454886 )
2017
3
A Case of Acute Paraplegia Due to Aortic Dissection in Marfan Syndrome. ( 28479826 )
2017
4
Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome. ( 28067899 )
2017
5
Coronary Involvement in Marfan Syndrome: The Role of Electrocardiographically Gated Computed Tomography Angiography. ( 28465996 )
2017
6
Accuracy of pedicle screw placement in patients with Marfan syndrome. ( 28327138 )
2017
7
Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm. ( 28385916 )
2017
8
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg. ( 28321935 )
2017
9
Marfan Syndrome: Staging Nonsurgical vs Surgical Treatments in Children With Subluxated Lenses and Refractive Problems. ( 28338994 )
2017
10
The Structural Role of Elastic Fibers in the Cornea Investigated Using a Mouse Model for Marfan Syndrome. ( 28395026 )
2017
11
Florida Sleeve Procedure Is Durable and Improves Aortic Valve Function in Marfan Syndrome Patients. ( 28410640 )
2017
12
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. ( 27739187 )
2017
13
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. ( 27914124 )
2017
14
Corneal K-Values as a Diagnostic Screening Tool for Marfan Syndrome. ( 28476049 )
2017
15
Characterization of pain, disability, and psychological burden in Marfan syndrome. ( 27862906 )
2017
16
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
17
The role of advanced echocardiography and cardiovascular magnetic resonance in the assessment of myocardial function in Marfan syndrome-An update. ( 28317279 )
2017
18
Oxidation injury and local mediator interplay in Marfan syndrome. ( 28466775 )
2017
19
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. ( 27893734 )
2017
20
Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. ( 28468757 )
2017
21
A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl. ( 28442527 )
2017
22
Interventional Spine Considerations for Dural Ectasia in a Patient With Marfan Syndrome. ( 28350559 )
2017
23
A Novel Murine Model of Marfan Syndrome Accelerates Aortopathy and Cardiomyopathy. ( 28347539 )
2017
24
Pregnancy-related acute aortic dissection in Marfan syndrome: A review of the literature. ( 28371362 )
2017
25
Longitudinal Evaluation of Aortic Hemodynamics in Marfan Syndrome: New Insights from a 4D Flow Cardiovascular Magnetic Resonance Multi-Year Follow-Up Study. ( 28327193 )
2017
26
Oral management of Marfan syndrome: an overview and case report. ( 27814256 )
2016
27
Losartan Attenuates Degradation of Aorta and Lung Tissue Micromechanics in a Mouse Model of Severe Marfan Syndrome. ( 27090893 )
2016
28
Imaging, Endoscopic and Genetic Assessment of Marfan Syndrome Presenting with Sigmoid Volvulus: A Review. ( 27382527 )
2016
29
Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations. ( 27085269 )
2016
30
Editorial Commentary: Understanding Marfan syndrome, or "how not to invent the light bulb". ( 27013137 )
2016
31
Marfan syndrome associated aortic disease in neonates and children: a clinical-morphologic review. ( 27479044 )
2016
32
Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. ( 27175573 )
2016
33
The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be? ( 27099264 )
2016
34
Quantifying Health Status and Function in Marfan Syndrome. ( 27082886 )
2016
35
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain. ( 27022329 )
2016
36
Chimney and sandwich stent grafts for hybrid repair of type A dissection late after a Bentall for Marfan syndrome. ( 27206808 )
2016
37
Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). ( 27515814 )
2016
38
Retropupillary iris-claw intraocular lens in ectopia lentis in Marfan syndrome. ( 27382335 )
2016
39
Ambulatory (24A h) blood pressure and arterial stiffness measurement in Marfan syndrome patients: a case control feasibility and pilot study. ( 27151044 )
2016
40
Infantile Marfan syndrome in a Korean tertiary referral center. ( 26958064 )
2016
41
Acute Eye Pain Following Prolonged Face-Down Positioning in a Patient With Marfan Syndrome. ( 28033436 )
2016
42
The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. ( 27843325 )
2016
43
Teaching NeuroImages: Intracranial hypotension in a patient with Marfan syndrome. ( 27462045 )
2016
44
Novel reconstruction of a vascular aneurysm in Marfan syndrome. ( 27807052 )
2016
45
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. ( 27733734 )
2016
46
Co-occurrence of Marfan syndrome and bipolar disorder: A fifteen year follow up. ( 27931917 )
2016
47
Participation of oleic acid in the formation of the aortic aneurysm in Marfan syndrome patients. ( 27163200 )
2016
48
Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases. ( 28050285 )
2016
49
Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall. ( 27535662 )
2016
50
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family. ( 27353645 )
2016

Variations for Marfan Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

66 (show top 50) (show all 320)
id Symbol AA change Variation ID SNP ID
1 FBN1 p.Cys111Arg VAR_002276
2 FBN1 p.Arg122Cys VAR_002277 rs137854467
3 FBN1 p.Cys129Tyr VAR_002278
4 FBN1 p.Cys166Phe VAR_002279
5 FBN1 p.Cys166Ser VAR_002280
6 FBN1 p.Trp217Gly VAR_002281
7 FBN1 p.Cys476Gly VAR_002282
8 FBN1 p.Asp490Tyr VAR_002283
9 FBN1 p.Arg545Cys VAR_002284
10 FBN1 p.Asn548Ile VAR_002285 rs137854462
11 FBN1 p.Cys587Tyr VAR_002286
12 FBN1 p.Arg627Cys VAR_002287
13 FBN1 p.Cys661Arg VAR_002288
14 FBN1 p.Ala705Thr VAR_002289
15 FBN1 p.Cys711Tyr VAR_002290
16 FBN1 p.Asp723Ala VAR_002291 rs137854463
17 FBN1 p.Tyr746Cys VAR_002292
18 FBN1 p.Cys750Gly VAR_002293
19 FBN1 p.Cys862Arg VAR_002294
20 FBN1 p.Cys926Arg VAR_002295
21 FBN1 p.Val984Ile VAR_002296
22 FBN1 p.Cys996Arg VAR_002297 rs140592
23 FBN1 p.Gly1013Arg VAR_002298 rs140593
24 FBN1 p.Lys1023Asn VAR_002299
25 FBN1 p.Lys1043Arg VAR_002300 rs137854472
26 FBN1 p.Ile1048Thr VAR_002301
27 FBN1 p.Cys1053Arg VAR_002303
28 FBN1 p.Cys1055Gly VAR_002304
29 FBN1 p.Asp1072Gly VAR_002306
30 FBN1 p.Glu1073Lys VAR_002307 rs137854478
31 FBN1 p.Cys1074Arg VAR_002308 rs137854465
32 FBN1 p.Cys1086Trp VAR_002309
33 FBN1 p.Cys1117Gly VAR_002310
34 FBN1 p.Cys1117Tyr VAR_002311 rs137854470
35 FBN1 p.Gly1127Ser VAR_002312 rs137854468
36 FBN1 p.Arg1137Pro VAR_002314 rs137854456
37 FBN1 p.Cys1153Tyr VAR_002316 rs140599
38 FBN1 p.Asp1155Asn VAR_002317
39 FBN1 p.Arg1170His VAR_002318 rs137854475
40 FBN1 p.Cys1171Trp VAR_002319
41 FBN1 p.Asn1173Lys VAR_002320
42 FBN1 p.Cys1223Tyr VAR_002321 rs137854469
43 FBN1 p.Cys1242Tyr VAR_002322 rs137854471
44 FBN1 p.Cys1249Ser VAR_002323 rs137854458
45 FBN1 p.Asn1382Ser VAR_002324
46 FBN1 p.Asp1404Tyr VAR_002325
47 FBN1 p.Cys1513Arg VAR_002326
48 FBN1 p.Cys1589Phe VAR_002327
49 FBN1 p.Cys1610Gly VAR_002328
50 FBN1 p.Cys1663Arg VAR_002329 rs137854459

ClinVar genetic disease variations for Marfan Syndrome:

6 (show top 50) (show all 343)
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 FBN1, 366-BP DEL deletion Pathogenic
2 FBN1 NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter) single nucleotide variant Pathogenic rs267606796 GRCh37 Chromosome 15, 48703535: 48703535
3 FBN1 NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser) single nucleotide variant Pathogenic rs137854458 GRCh37 Chromosome 15, 48776107: 48776107
4 FBN1 NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg) single nucleotide variant Pathogenic rs137854459 GRCh37 Chromosome 15, 48756174: 48756174
5 FBN1 NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser) single nucleotide variant Pathogenic rs137854460 GRCh37 Chromosome 15, 48725140: 48725140
6 FBN1 NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr) single nucleotide variant Pathogenic rs137854470 GRCh37 Chromosome 15, 48779622: 48779622
7 FBN1 NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr) single nucleotide variant Pathogenic rs137854471 GRCh37 Chromosome 15, 48776128: 48776128
8 FBN1 NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter) single nucleotide variant Pathogenic rs267606797 GRCh37 Chromosome 15, 48729559: 48729559
9 FBN1 NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser) single nucleotide variant Pathogenic rs137854461 GRCh37 Chromosome 15, 48729223: 48729223
10 FBN1 NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile) single nucleotide variant Pathogenic rs137854462 GRCh37 Chromosome 15, 48802312: 48802312
11 FBN1 NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala) single nucleotide variant Pathogenic rs137854463 GRCh37 Chromosome 15, 48789588: 48789588
12 FBN1 FBN1, 83-BP DEL deletion Pathogenic
13 FBN1 FBN1, IVS54DS, G-C, +1, 123-BP DEL deletion Pathogenic
14 FBN1 NM_000138.4(FBN1): c.7339G> A (p.Glu2447Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854464 GRCh37 Chromosome 15, 48717680: 48717680
15 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh37 Chromosome 15, 48703477: 48703477
16 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh37 Chromosome 15, 48892414: 48892414
17 FBN1 NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr) single nucleotide variant Pathogenic rs137854469 GRCh37 Chromosome 15, 48777615: 48777615
18 FBN1 FBN1, 1-BP DEL, 3192A deletion Pathogenic
19 FBN1 NM_000138.4(FBN1): c.6354C> T (p.Ile2118=) single nucleotide variant Pathogenic/Likely pathogenic rs112989722 GRCh37 Chromosome 15, 48729544: 48729544
20 FBN1 NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg) single nucleotide variant Pathogenic rs137854474 GRCh37 Chromosome 15, 48776060: 48776060
21 FBN1 NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter) single nucleotide variant Pathogenic rs137854476 GRCh37 Chromosome 15, 48805749: 48805749
22 FBN1 FBN1, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
23 FBN1 NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg) single nucleotide variant Pathogenic rs140593 GRCh37 Chromosome 15, 48782093: 48782093
24 FBN1 FBN1, 33-BP INS, IVS46, G-A, +1 insertion Pathogenic
25 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh37 Chromosome 15, 48780430: 48780430
26 FBN1 FBN1, IVS46+5G-A single nucleotide variant Pathogenic
27 FBN1 NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys) single nucleotide variant Pathogenic rs137854479 GRCh37 Chromosome 15, 48789495: 48789495
28 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
29 FBN1 NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr) single nucleotide variant Pathogenic rs137854482 GRCh37 Chromosome 15, 48779586: 48779586
30 FBN1 NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr) single nucleotide variant Pathogenic rs137854483 GRCh37 Chromosome 15, 48777621: 48777621
31 FBN1 FBN1, 302.5-KB DEL deletion Pathogenic
32 FBN1 FBN1, EX13-49DEL deletion Pathogenic
33 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic rs387906623 GRCh37 Chromosome 15, 48752455: 48752455
34 FBN1 NM_000138.4(FBN1): c.2855-1G> C single nucleotide variant Likely pathogenic rs112202622 GRCh38 Chromosome 15, 48490079: 48490079
35 FBN1 NM_000138.4(FBN1): c.1211delC (p.Pro404Hisfs) deletion Pathogenic/Likely pathogenic rs112289537 GRCh37 Chromosome 15, 48808496: 48808496
36 FBN1 NM_000138.4(FBN1): c.1634G> A (p.Arg545His) single nucleotide variant Likely pathogenic rs193922179 GRCh37 Chromosome 15, 48802321: 48802321
37 FBN1 NM_000138.4(FBN1): c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla) duplication Likely pathogenic rs193922181 GRCh37 Chromosome 15, 48802278: 48802286
38 FBN1 NM_000138.4(FBN1): c.1709delG (p.Cys570Leufs) deletion Likely pathogenic rs193922182 GRCh37 Chromosome 15, 48802246: 48802246
39 FBN1 NM_000138.4(FBN1): c.1710T> A (p.Cys570Ter) single nucleotide variant Likely pathogenic rs193922183 GRCh37 Chromosome 15, 48802245: 48802245
40 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Likely pathogenic rs193922185 GRCh37 Chromosome 15, 48797234: 48797234
41 FBN1 NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp) single nucleotide variant Pathogenic rs140603 GRCh37 Chromosome 15, 48796042: 48796042
42 FBN1 NM_000138.4(FBN1): c.2057C> A (p.Ala686Asp) single nucleotide variant Likely pathogenic rs193922186 GRCh37 Chromosome 15, 48796040: 48796040
43 FBN1 NM_000138.4(FBN1): c.2186delT (p.Leu729Glnfs) deletion Likely pathogenic rs193922187 GRCh37 Chromosome 15, 48789570: 48789570
44 FBN1 NM_000138.4(FBN1): c.2369G> C (p.Cys790Ser) single nucleotide variant Likely pathogenic rs193922188 GRCh37 Chromosome 15, 48788347: 48788347
45 FBN1 NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193921256 GRCh37 Chromosome 15, 48787772: 48787772
46 FBN1 NM_000138.4(FBN1): c.2479T> C (p.Ser827Pro) single nucleotide variant Likely pathogenic rs193922189 GRCh37 Chromosome 15, 48787726: 48787726
47 FBN1 NM_000138.4(FBN1): c.2508T> A (p.Ser836Arg) single nucleotide variant Likely pathogenic rs193922190 GRCh37 Chromosome 15, 48787697: 48787697
48 FBN1 NM_000138.4(FBN1): c.2542A> C (p.Thr848Pro) single nucleotide variant Likely pathogenic rs193922191 GRCh37 Chromosome 15, 48787455: 48787455
49 FBN1 NM_000138.4(FBN1): c.266G> C (p.Cys89Ser) single nucleotide variant Likely pathogenic rs112660651 GRCh37 Chromosome 15, 48903005: 48903005
50 FBN1 NM_000138.4(FBN1): c.2677G> C (p.Asp893His) single nucleotide variant Likely pathogenic rs193922193 GRCh37 Chromosome 15, 48787320: 48787320

Copy number variations for Marfan Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 92862 15 44800000 49500000 Deletion FBN1 Marfan syndrome

Expression for Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for Marfan Syndrome

Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 46)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ACTA2 BMP6 COL1A2 EGF ELN FBN1
2
Show member pathways
13.65 ACTA2 BMP6 EGF LTBP2 MMP2 TGFB1
3
Show member pathways
13.47 AGTR1 BMP6 EGF LTBP2 TGFB1 TGFBR1
4
Show member pathways
13.27 ACTA2 COL1A2 EGF ELN FBN1 FBN2
5
Show member pathways
13.24 ACTA2 BMP6 EGF LTBP2 TGFB1 TGFBR1
6
Show member pathways
13 AGTR1 BMP6 EGF LTBP2 TGFB1 TGFBR1
7 12.61 AGTR1 EGF MMP2 TGFB1 TGFBR1 TGFBR2
8
Show member pathways
12.55 ACTA2 BMP6 COL1A2 EGF ELN FBN1
9
Show member pathways
12.52 EGF MMP2 TGFB1 TGFBR1 TGFBR2
10
Show member pathways
12.51 COL1A2 DCN ELN FBN1 FBN2 LTBP2
11 12.38 EGF TGFB1 TGFBR1 TGFBR2
12
Show member pathways
12.31 EGF TGFB1 TGFBR1 TGFBR2
13 12.12 BMP6 TGFB1 TGFBR1 TGFBR2
14 12.11 EGF MMP2 TGFB1 TGFBR1 TGFBR2
15
Show member pathways
12.06 EGF TGFB1 TGFBR1 TGFBR2
16
Show member pathways
12.05 EGF TGFB1 TGFBR1 TGFBR2
17
Show member pathways
12.04 EGF MMP2 TGFB1 TGFBR1 TGFBR2
18 12.02 COL1A2 TGFB1 TGFBR1 TGFBR2
19 12.01 ACTA2 AGTR1 TGFBR1
20 11.98 TGFB1 TGFBR1 TGFBR2
21 11.92 COL1A2 MMP2 TGFB1
22
Show member pathways
11.86 TGFB1 TGFBR1 TGFBR2
23 11.85 TGFB1 TGFBR1 TGFBR2
24 11.84 ACTA2 BMP6 DCN EGF TGFB1
25
Show member pathways
11.82 TGFB1 TGFBR1 TGFBR2
26 11.78 MMP2 TGFB1 TGFBR1
27 11.73 BMP6 DCN TGFB1 TGFBR1 TGFBR2
28
Show member pathways
11.72 TGFB1 TGFBR1 TGFBR2
29 11.69 TGFB1 TGFBR1 TGFBR2
30 11.68 BMP6 EGF LTBP2 TGFB1
31
Show member pathways
11.68 TGFB1 TGFBR1 TGFBR2
32
Show member pathways
11.63 ELN FBN1 FBN2 LTBP2 TGFB1
33 11.63 AGTR1 COL1A2 MMP2 TGFB1 TGFBR1 TGFBR2
34 11.62 EGF ELN MMP2 TGFB1
35 11.57 EGF TGFB1 TGFBR1 TGFBR2
36 11.53 TGFB1 TGFBR1 TGFBR2
37 11.53 ACTA2 BMP6 MMP2 TGFB1 TGFBR1 TGFBR2
38 11.5 TGFB1 TGFBR1 TGFBR2
39
Show member pathways
11.43 TGFB1 TGFBR1 TGFBR2
40 11.31 COL1A2 DCN MMP2
41 11.24 TGFB1 TGFBR1 TGFBR2
42
Show member pathways
11.19 TGFB1 TGFBR1 TGFBR2
43 11.17 TGFB1 TGFBR1 TGFBR2
44 11.06 TGFB1 TGFBR1 TGFBR2
45 11.02 TGFBR1 TGFBR2
46 10.5 AGTR1 FBN1 FBN2 LTBP2 TGFBR1 TGFBR2

GO Terms for Marfan Syndrome

Cellular components related to Marfan Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 BMP6 COL1A2 DCN EGF ELN FBN1
2 extracellular space GO:0005615 9.81 ACTA2 BMP6 COL1A2 DCN EGF FBN1
3 receptor complex GO:0043235 9.58 EGF TGFBR1 TGFBR2
4 extracellular matrix GO:0031012 9.5 COL1A2 DCN FBN1 FBN2 LTBP2 MMP2
5 microfibril GO:0001527 9.37 FBN1 FBN2
6 transforming growth factor beta receptor complex GO:0070022 9.32 TGFBR1 TGFBR2
7 proteinaceous extracellular matrix GO:0005578 9.23 COL1A2 DCN ELN FBN1 FBN2 LTBP2

Biological processes related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.88 FBN1 TGFB1 TGFBR1 TGFBR2
2 skeletal system development GO:0001501 9.81 BMP6 COL1A2 FBN1 TGFBR1
3 animal organ morphogenesis GO:0009887 9.8 DCN ELN TGFBR2
4 extracellular matrix organization GO:0030198 9.8 COL1A2 DCN ELN FBN1 FBN2
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.75 TGFB1 TGFBR1 TGFBR2
6 cellular response to transforming growth factor beta stimulus GO:0071560 9.74 FBN1 TGFB1 TGFBR1
7 wound healing GO:0042060 9.73 DCN TGFB1 TGFBR1 TGFBR2
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.71 BMP6 TGFB1 TGFBR1
9 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 TGFB1 TGFBR1 TGFBR2
10 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.63 TGFBR1 TGFBR2
11 myeloid dendritic cell differentiation GO:0043011 9.63 TGFB1 TGFBR2
12 positive regulation of bone mineralization GO:0030501 9.63 BMP6 FBN2 TGFB1
13 positive regulation of cellular protein metabolic process GO:0032270 9.62 AGTR1 TGFB1
14 embryonic eye morphogenesis GO:0048048 9.61 FBN1 FBN2
15 germ cell migration GO:0008354 9.61 TGFB1 TGFBR1
16 bone trabecula formation GO:0060346 9.6 FBN2 MMP2
17 cellular response to insulin-like growth factor stimulus GO:1990314 9.59 FBN1 TGFB1
18 common-partner SMAD protein phosphorylation GO:0007182 9.56 TGFB1 TGFBR2
19 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.55 TGFBR1 TGFBR2
20 kidney development GO:0001822 9.55 AGTR1 BMP6 DCN FBN1 TGFBR1
21 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFB1 TGFBR1 TGFBR2
22 regulation of cellular response to growth factor stimulus GO:0090287 9.52 FBN1 FBN2
23 positive regulation of SMAD protein import into nucleus GO:0060391 9.5 BMP6 TGFB1 TGFBR1
24 sequestering of TGFbeta in extracellular matrix GO:0035583 9.49 FBN1 FBN2
25 response to cholesterol GO:0070723 9.43 TGFB1 TGFBR1 TGFBR2
26 transforming growth factor beta receptor signaling pathway GO:0007179 9.35 COL1A2 LTBP2 TGFB1 TGFBR1 TGFBR2
27 extracellular matrix disassembly GO:0022617 9.02 DCN ELN FBN1 FBN2 MMP2

Molecular functions related to Marfan Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.43 TGFBR1 TGFBR2
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR1 TGFBR2
3 type I transforming growth factor beta receptor binding GO:0034713 9.37 TGFB1 TGFBR2
4 type II transforming growth factor beta receptor binding GO:0005114 9.32 TGFB1 TGFBR1
5 transforming growth factor beta-activated receptor activity GO:0005024 9.26 TGFBR1 TGFBR2
6 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 FBN2
7 SMAD binding GO:0046332 9.13 COL1A2 TGFBR1 TGFBR2
8 extracellular matrix structural constituent GO:0005201 8.92 COL1A2 ELN FBN1 FBN2

Sources for Marfan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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44 MGI
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48 NDF-RT
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52 Novoseek
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65 SNOMED-CT via Orphanet
67 TGDB
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